Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

New England Journal of Medicine

Volumn 343, Issue 23, 2000, Pages 1688-1696

  Kamisago, Mitsuhiro ^a,b   Sharma, Sapna D ^b   DePalma, Steven R ^b   Solomon, Scott ^a   Sharma, Pankaj ^b   McDonough, Barbara ^b   Smoot, Leslie ^c   Mullen, Mary P ^c,d   Woolf, Paul K ^e   Wigle, E Douglas ^f   Seidman, J G ^b   Seidman, Christine E ^a,b,g   Jancho, John ^a   Shapiro, Lawrence R ^e  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e NEW YORK MEDICAL COLLEGE   (United States)

^f UNIVERSITY OF TORONTO   (Canada)

^g HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; HEART DILATATION; HISTOPATHOLOGY; HUMAN; MALE; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SARCOMERE; SCHOOL CHILD;

EID: 0034619996     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM200012073432304     Document Type: Article

References (38)

1. Report of the National Heart, Lung, and Blood Institute Special Emphasis Panel on heart failure research
2. The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy
3. Frequency and phenotypes of familial dilated cardiomyopathy
4. X-linked dilated cardiomyopathy: Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus
5. Desmin mutation responsible for diopathic dilated cardiomyopathy
6. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene
7. A novel X-linked gene, G4.5. is responsible for Barth syndrome
8. The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathy
9. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
10. Familial dilated cardiomyopathy: Evidence for genetic and phenotypic heterogeneity
11. Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32
12. A family with autosomal dominant dilated cardiomyopathy maps to a novel locus in chromosome 2
13. Familial dilated cardiomyopathy locus maps to chromosome 2q31
14. Linkage of familial dilated cardiomyopathy to chromosome 9
15. Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23
16. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
17. Guidelines for the study of familial dilated cardiomyopathies
18. 235→ Thr allele of the human angiotensinogen gene
19. Human cardiac troponin T: Identification of fetal isoforms and assignment of the TNNT2 locus to chromosome 1q
20. Molecular genetics of inherited cardiomyopathies
21. Hypertrophic cardiomyopathy: Clinical spectrum and treatment
22. Progression of left ventricular enlargement in patients with hypertrophic cardiomyopathy: Incidence and prognostic value
23. Occurrence and significance of progressive left ventricular wall thinning and relative cavity dilatation in hypertrophic cardiomyopathy
24. Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy
25. The active site of myosin
26. Thin filament-mediated regulation of cardiac contraction
27. A mouse model of familial hypertrophic cardiomyopathy
28. Interaction of deletion mutants of troponins I and T: COOH-terminal truncation of troponin T abolishes troponin I binding and reduces Ca2+ sensitivity of the reconstituted regulatory system
29. Cross-linking of rabbit skeletal muscle troponin subunits: Labeling of cysteine-98 of troponin C with 4-maleimidobenzophenone and analysis of products formed in the binary complex with troponin T and the ternary complex with troponins I and T
30. Structures of four Ca2+-bound troponin C at 2.0 A resolution: Further insights into the Ca2+-switch in the calmodulin superfamily
31. Involvement of conserved, acidic residues in the N-terminal domain of troponin C in calcium-dependent regulation
32. Three-dimensional structure of myosin subfragment-1: A molecular motor
33. Atomic structure of scallop myosin subfragment S1 complexed with MgADP: A novel conformation of the myosin head
34. Conservation within the myosin motor domain: Implications for structure and function
35. Myosin VI is an actin-based motor that moves backwards
36. Stress pathways and heart failure
37. Etiologies of cardiomyopathy and heart failure